Symptoms which have been reported by some individuals or publications associated with this gene (some individuals may experience more than one, or none of these symptoms):

​​

• Epilepsy

• Intellectual disability

• Severe global disability

• Movement disorders (including choreoathetosis, dystonia, and ataxia)

• Cortical-visual impairment

• Lennox-Gastaut syndrome

 

​

​

iPS Cell lines available:

GABRB2:   c.896 T>G,  p.I299S  (male, plus father control wild-type)

GABRB2:   c.737 T>C, p. I246T   (male, plus father control wild-type)

​

​

Publications:

 

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation

 

Characterization of the GABRB2-Associated Neurodevelopmental Disorders

 

Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy

 

GABAA Receptor Variants in Epilepsy

​

GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants - Absalom - Journal of Neurochemistry - Wiley Online Library